It’s easy to think of diabetes as a manageable condition—but for families living with it, the day-to-day reality can be relentless, invasive, and unforgiving. Get the diagnosis wrong, and the consequences can be severe: seizures and coma in the short term; blindness, amputation, and heart disease over time. The disease can shorten a child’s life expectancy by up to 18 years.
Just as “cancer” encompasses dozens of distinct conditions, “diabetes” covers a spectrum of biologically distinct diseases. Beyond the familiar Type 1 and Type 2, there is an entire category called monogenic diabetes caused by a change in a single gene—that affects an estimated 90,000 children worldwide. Today, up to 85% of these cases are missed or misdiagnosed — affecting treatment and prognosis and leaving families without vital information about their own genetic risk.
Identifying changes in the genome is only a fraction of the challenge—understanding what those changes mean is the more difficult task. Dr. Anna Gloyn has spent her career working to do just that, so that every child can get an accurate diagnosis matched to the best available treatment. At Stanford, she has found the tools, the team, and the ecosystem to do this work at an unprecedented speed and scale. Her efforts are already bringing longer, healthier lives to children and, in some cases, whole families.
A Breakthrough: From Insulin Pumps to a Pill
Early in her career, Dr. Gloyn discovered the most common genetic cause of neonatal diabetes and showed it could be treated with oral medication rather than an insulin pump. Her discovery transformed care: today, every baby with diabetes symptoms is tested for this variant.
Jack is one of these children. He experienced typical symptoms of diabetes, failed to meet normal developmental milestones, and suffered from epilepsy. When he was switched to the oral treatment that Dr. Gloyn’s research showed would be more effective, the results were striking—his epilepsy disappeared and he said his first words.
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Give Every Child the Right Diagnosis
The Path Forward: Three Approaches to a Precision Future
Dr. Gloyn envisions a future where every child with diabetes receives the right diagnosis, matched to the right treatment, as early as possible. Philanthropy is essential to making this vision a reality.
Building the World’s First Comprehensive Variant Catalogue
Dr. Gloyn’s lab is constructing the world’s first catalogue of every possible variant in monogenic diabetes genes—so that any child with diabetes symptoms can get genetic test results we can accurately and confidently interpret. This catalogue is made possible by only-at-Stanford technology that shrinks biological experiments down to nanoscale, allowing thousands or even millions of reactions to run simultaneously. Dr. Gloyn is the first person in the world to bring this technology into medicine—and sees tremendous potential for it to transform other areas of children’s health. The complexity and huge toll of diabetes make the disease the perfect place to start. Philanthropy can establish Stanford Medicine Children’s Health as the global epicenter for cataloging monogenic diabetes variants.
Genetic Tests That Distinguish Between Diabetes Types
Dr. Gloyn’s lab is developing a cutting-edge series of tests that can be deployed at diagnosis to distinguish between monogenic, Type 1, and Type 2 diabetes—conditions whose symptoms can look remarkably similar in kids despite very different underlying biology. Stanford is the first center to routinely use these genetic tests on all children newly diagnosed with diabetes. Every patient also contributes to a growing repository, helping to assemble one of the most valuable diabetes datasets in existence. Philanthropic support can expedite the development of these tools — and ensure that they reach children and research teams everywhere.
Understanding the Beta Cell
All forms of diabetes share a common thread: the failure of the beta cell, which produces insulin and regulates blood sugar. Using human islets, human beta cell models, and stem cells—a combination no other lab deploys at this scale—Dr. Gloyn’s team is uncovering how changes in our genome affect insulin secretion and beta cell health to alter diabetes risk. This work is a critical step toward identifying opportunities to therapeutically intervene in children and adults with all forms of diabetes.
Jennifer Stameson, Vice President, Major Gifts
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